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Basic Information

SAV Position Domain position
RS Q(SASA) Source Structural position

Pathogenicity / Stability Predictions

AlphaMissense (IC) AlphaMissense (N2AB)
CADD Condel DUET FATHMM M-CAP
mCSM MetaLR MetaSVM MPC MutationAssessor
MutationTaster MutPred MVP PolyPhen-2
PrimateAI PROVEAN REVEL Rhapsody SIFT

Disease Associations

Disease Zygosity Comments

Population Frequencies

Whole Population MAF African (AFR) Latin American (AMR)
Amish (AMS) Ashkenazi Jewish (ASJ) East Asian (EAS)
European/1KGP (EUR) Finnish (FIN) Middle Eastern (MDE)
Non-Finnish European (NFE) South Asian (SAS) Other (OTH)

Other Annotations

Site Annotation Predicted PPI site mCSM-PPI

10 20 30 40 50 60 70 80 90
P R F V K K L S D T S T L I G D A V E L R A I V E G F Q P I S V V W L K D R G E V I R E S E N T R I S F I D N I A T L Q L G S P E A S N S G K Y I C Q I K N D A G M R E C S A V L T V L
P R F V K K L S D T S T L I G D A V E L R A I V E G F Q P I S V V W L K D R G E V I R E S E N T R I S F I D N I A T L Q L G S P E A S N S G K Y I C Q I K N D A G M R E C S A V L T V -

Map SAVs to Structure

The data displayed in the table aims to be as complete as possible and contains information for all available sources including different versions of the same source, for example, different sources of gnomAD. To avoid seeing multiple entries for the same variant, we recommend to sort by Source first.

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
7795 1 P/L 1 None 0.1466 None gnomAD-4.0.0 1.20032E-06
7795 1 P/S 1 rs1164633288 0.1466 None gnomAD-2.1.1 4.07E-06
7795 1 P/S 1 rs1164633288 0.1466 None gnomAD-4.0.0 3.21027E-06
7796 2 R/Q 2 rs267599059 0.4570 None gnomAD-2.1.1 7.59E-05
7796 2 R/Q 2 rs267599059 0.4570 None gnomAD-3.1.2 2.03813E-04
7796 2 R/Q 2 rs267599059 0.4570 None 1000 genomes 1.99681E-04
7796 2 R/Q 2 rs267599059 0.4570 None gnomAD-4.0.0 3.856E-05
7797 3 F/L 3 rs754815317 0.1515 None gnomAD-3.1.2 6.57E-06
7797 3 F/L 3 rs754815317 0.1515 None gnomAD-4.0.0 7.45733E-06
7798 4 V/L 4 rs144032104 0.4842 None gnomAD-4.0.0 4.1165E-06
7798 4 V/M 4 rs144032104 0.4842 None gnomAD-2.1.1 4.07E-05
7798 4 V/M 4 rs144032104 0.4842 None gnomAD-3.1.2 1.97E-05
7798 4 V/M 4 rs144032104 0.4842 None 1000 genomes 1.99681E-04
7798 4 V/M 4 rs144032104 0.4842 None gnomAD-4.0.0 1.92576E-05
7801 7 L/V 8 None 0.1908 None gnomAD-4.0.0 6.85611E-07
7804 10 T/A 13 rs1319873133 0.4024 None gnomAD-2.1.1 4.05E-06
7804 10 T/A 13 rs1319873133 0.4024 None gnomAD-4.0.0 1.59579E-06
7805 11 S/A 14 rs369062299 0.5305 None gnomAD-2.1.1 4.04E-06
7805 11 S/A 14 rs369062299 0.5305 None gnomAD-3.1.2 6.57E-06
7805 11 S/A 14 rs369062299 0.5305 None gnomAD-4.0.0 2.0299E-06
7806 12 T/P 16 None 0.1581 None gnomAD-4.0.0 1.20032E-06
7808 14 I/F 23 rs780407852 0.5579 None gnomAD-3.1.2 6.57E-06
7808 14 I/F 23 rs780407852 0.5579 None gnomAD-4.0.0 1.23958E-06
7808 14 I/T 23 rs1401488041 0.5579 None gnomAD-2.1.1 4.03E-06
7808 14 I/T 23 rs1401488041 0.5579 None gnomAD-3.1.2 6.57E-06
7808 14 I/T 23 rs1401488041 0.5579 None gnomAD-4.0.0 5.57796E-06
7808 14 I/V 23 rs780407852 0.5579 None gnomAD-2.1.1 4.03E-06
7808 14 I/V 23 rs780407852 0.5579 None gnomAD-3.1.2 6.57E-06
7808 14 I/V 23 rs780407852 0.5579 None gnomAD-4.0.0 1.23958E-06
7809 15 G/R 24 None 0.2479 None gnomAD-4.0.0 1.20032E-06
7810 16 D/G 25 rs375392021 0.4891 None gnomAD-2.1.1 4.03E-06
7810 16 D/H 25 rs2078129851 0.4891 None gnomAD-4.0.0 3.18334E-06
7810 16 D/V 25 rs375392021 0.4891 None gnomAD-2.1.1 2.15E-05
7810 16 D/V 25 rs375392021 0.4891 None gnomAD-3.1.2 4.6E-05
7810 16 D/V 25 rs375392021 0.4891 None gnomAD-4.0.0 9.13472E-06
7810 16 D/Y 25 None 0.4891 None gnomAD-3.1.2 6.57E-06
7810 16 D/Y 25 None 0.4891 None gnomAD-4.0.0 6.57194E-06
7813 19 E/Q 29 None 0.3249 None gnomAD-4.0.0 1.20032E-06
7815 21 R/G 31 None 0.4734 None gnomAD-4.0.0 6.84262E-07
7815 21 R/P 31 None 0.4734 None gnomAD-4.0.0 6.8426E-07
7815 21 R/Q 31 rs372804810 0.4734 None gnomAD-2.1.1 4.03E-05
7815 21 R/Q 31 rs372804810 0.4734 None gnomAD-3.1.2 3.94E-05
7815 21 R/Q 31 rs372804810 0.4734 None gnomAD-4.0.0 3.40853E-05
7815 21 R/W 31 rs528264100 0.4734 None gnomAD-2.1.1 4.03E-05
7815 21 R/W 31 rs528264100 0.4734 None gnomAD-3.1.2 2.63E-05
7815 21 R/W 31 rs528264100 0.4734 None gnomAD-4.0.0 2.29286E-05
7816 22 A/V 33 None 0.1002 None gnomAD-4.0.0 1.5915E-06
7818 24 V/A 35 None 0.1073 None gnomAD-4.0.0 1.5915E-06
7818 24 V/M 35 rs748019401 0.1073 None gnomAD-2.1.1 4.03E-06
7818 24 V/M 35 rs748019401 0.1073 None gnomAD-4.0.0 1.5915E-06
7819 25 E/Q 38 rs201420077 0.3786 None gnomAD-2.1.1 1.96659E-04
7819 25 E/Q 38 rs201420077 0.3786 None gnomAD-3.1.2 1.97119E-04
7819 25 E/Q 38 rs201420077 0.3786 None gnomAD-4.0.0 2.22478E-04
7821 27 F/L 41 rs1478276063 1.0713 None gnomAD-2.1.1 4.03E-06
7821 27 F/L 41 rs1478276063 1.0713 None gnomAD-4.0.0 8.21097E-06
7822 28 Q/H 42 None 0.4311 None gnomAD-4.0.0 1.5915E-06
7823 29 P/L 43 rs2154300491 0.6176 None gnomAD-4.0.0 1.20032E-06
7823 29 P/T 43 rs768540966 0.6176 None gnomAD-2.1.1 4.03E-06
7823 29 P/T 43 rs768540966 0.6176 None gnomAD-4.0.0 2.1896E-05
7825 31 S/Y 45 None 0.4192 None gnomAD-4.0.0 1.59147E-06
7826 32 V/A 46 rs200663337 0.2453 None gnomAD-2.1.1 6.43E-05
7826 32 V/A 46 rs200663337 0.2453 None gnomAD-3.1.2 4.6E-05
7826 32 V/A 46 rs200663337 0.2453 None gnomAD-4.0.0 7.74644E-05
7826 32 V/F 46 rs746798612 0.2453 None gnomAD-4.0.0 7.52669E-06
7826 32 V/I 46 rs746798612 0.2453 None gnomAD-2.1.1 1.61E-05
7826 32 V/I 46 rs746798612 0.2453 None gnomAD-3.1.2 6.57E-06
7826 32 V/I 46 rs746798612 0.2453 None gnomAD-4.0.0 7.43667E-06
7827 33 V/A 47 rs758655083 0.4034 None gnomAD-2.1.1 4.02E-06
7827 33 V/F 47 None 0.4034 None gnomAD-4.0.0 1.59146E-06
7828 34 W/L 48 rs750697689 0.1298 None gnomAD-2.1.1 8.05E-06
7828 34 W/L 48 rs750697689 0.1298 None gnomAD-4.0.0 3.18293E-06
7831 37 D/H 51 rs1220028372 0.4228 None gnomAD-2.1.1 4.02E-06
7831 37 D/H 51 rs1220028372 0.4228 None gnomAD-4.0.0 3.42122E-06
7832 38 R/G 52 rs2154300472 1.0649 None gnomAD-3.1.2 6.57E-06
7832 38 R/G 52 rs2154300472 1.0649 None gnomAD-4.0.0 6.56409E-06
7832 38 R/I 52 rs1300244680 1.0649 None gnomAD-2.1.1 4.02E-06
7832 38 R/I 52 rs1300244680 1.0649 None gnomAD-3.1.2 6.57E-06
7832 38 R/I 52 rs1300244680 1.0649 None gnomAD-4.0.0 3.84336E-06
7832 38 R/K 52 None 1.0649 None gnomAD-4.0.0 1.59144E-06
7833 39 G/D 55 rs2154300464 0.3405 None gnomAD-4.0.0 3.71797E-06
7833 39 G/R 55 rs779083208 0.3405 None gnomAD-2.1.1 8.57E-05
7833 39 G/R 55 rs779083208 0.3405 None gnomAD-3.1.2 3.29E-05
7833 39 G/R 55 rs779083208 0.3405 None gnomAD-4.0.0 2.4169E-05
7834 40 E/K 56 None 0.7222 None gnomAD-4.0.0 1.59143E-06
7835 41 V/F 57 None 0.4715 None gnomAD-4.0.0 1.20032E-06
7835 41 V/I 57 rs757420766 0.4715 None gnomAD-2.1.1 4.02E-06
7835 41 V/I 57 rs757420766 0.4715 None gnomAD-4.0.0 1.20032E-06
7836 42 I/L 58 rs1312879712 0.1740 None gnomAD-3.1.2 1.31E-05
7836 42 I/L 58 rs1312879712 0.1740 None gnomAD-4.0.0 3.04467E-06
7836 42 I/N 58 rs753936432 0.1740 None gnomAD-2.1.1 1.61E-05
7836 42 I/N 58 rs753936432 0.1740 None gnomAD-4.0.0 2.73694E-06
7836 42 I/T 58 None 0.1740 None gnomAD-4.0.0 6.84235E-07
7837 43 R/G 59 None 0.7689 None gnomAD-4.0.0 3.18281E-06
7838 44 E/D 70 None 0.5282 None gnomAD-4.0.0 1.59141E-06
7838 44 E/K 70 rs891050085 0.5282 None gnomAD-2.1.1 4.02E-06
7838 44 E/K 70 rs891050085 0.5282 None gnomAD-3.1.2 1.31E-05
7838 44 E/K 70 rs891050085 0.5282 None gnomAD-4.0.0 3.84346E-06
7839 45 S/R 73 None 0.3184 None gnomAD-4.0.0 1.20032E-06
7841 47 N/D 115 rs753072306 0.3695 None gnomAD-2.1.1 4.02E-06
7841 47 N/Y 115 rs753072306 0.3695 None gnomAD-2.1.1 2.5E-05
7841 47 N/Y 115 rs753072306 0.3695 None gnomAD-3.1.2 6.57E-06
7841 47 N/Y 115 rs753072306 0.3695 None gnomAD-4.0.0 7.43641E-06
7843 49 R/M 122 None 0.6994 None gnomAD-4.0.0 1.59144E-06
7846 52 F/L 127 rs149523263 0.2937 None gnomAD-2.1.1 3.42798E-03
7846 52 F/L 127 rs149523263 0.2937 None gnomAD-3.1.2 1.74839E-03
7846 52 F/L 127 rs149523263 0.2937 None 1000 genomes 5.99042E-03
7846 52 F/L 127 rs149523263 0.2937 None gnomAD-4.0.0 1.36846E-06
7846 52 F/Y 127 rs397517504 0.2937 None gnomAD-4.0.0 1.59144E-06
7847 53 I/T 130 rs2078114605 0.6959 None gnomAD-3.1.2 6.57E-06
7847 53 I/T 130 rs2078114605 0.6959 None gnomAD-4.0.0 6.57108E-06
7847 53 I/V 130 rs1268176947 0.6959 None gnomAD-2.1.1 8.04E-06
7847 53 I/V 130 rs1268176947 0.6959 None gnomAD-3.1.2 6.57E-06
7847 53 I/V 130 rs1268176947 0.6959 None gnomAD-4.0.0 4.95762E-06
7848 54 D/G 131 None 0.8119 None gnomAD-4.0.0 1.20032E-06
7850 56 I/F 135 None 0.3483 None gnomAD-4.0.0 1.20032E-06
7850 56 I/V 135 None 0.3483 None gnomAD-4.0.0 2.40064E-06
7851 57 A/T 136 rs1457271874 0.0913 None gnomAD-2.1.1 8.04E-06
7851 57 A/T 136 rs1457271874 0.0913 None gnomAD-4.0.0 4.77436E-06
7851 57 A/V 136 rs761381617 0.0913 None gnomAD-2.1.1 4.02E-06
7851 57 A/V 136 rs761381617 0.0913 None gnomAD-4.0.0 2.73699E-06
7852 58 T/A 137 None 0.1588 None gnomAD-4.0.0 2.05273E-06
7852 58 T/I 137 rs1183659807 0.1588 None gnomAD-3.1.2 6.57E-06
7852 58 T/I 137 rs1183659807 0.1588 None gnomAD-4.0.0 3.71838E-06
7853 59 L/F 138 rs776061262 0.0853 None gnomAD-2.1.1 8.04E-06
7853 59 L/F 138 rs776061262 0.0853 None gnomAD-4.0.0 3.18285E-06
7855 61 L/V 140 rs1364646771 0.1920 None gnomAD-2.1.1 3.19E-05
7855 61 L/V 140 rs1364646771 0.1920 None gnomAD-3.1.2 6.57E-06
7855 61 L/V 140 rs1364646771 0.1920 None gnomAD-4.0.0 2.56253E-06
7856 62 G/A 141 None 0.2920 None gnomAD-4.0.0 6.8425E-07
7856 62 G/E 141 rs919783694 0.2920 None gnomAD-2.1.1 4.02E-06
7856 62 G/E 141 rs919783694 0.2920 None gnomAD-3.1.2 6.58E-06
7856 62 G/E 141 rs919783694 0.2920 None gnomAD-4.0.0 8.67678E-06
7856 62 G/R 141 None 0.2920 None gnomAD-4.0.0 1.59148E-06
7857 63 S/T 143 None 0.4444 None gnomAD-4.0.0 1.20032E-06
7860 66 A/T 146 rs138076523 0.4577 None gnomAD-2.1.1 3.62E-05
7860 66 A/T 146 rs138076523 0.4577 None gnomAD-3.1.2 4.6E-05
7860 66 A/T 146 rs138076523 0.4577 None 1000 genomes 3.99361E-04
7860 66 A/T 146 rs138076523 0.4577 None gnomAD-4.0.0 7.25073E-05
7861 67 S/A 148 None 0.4841 None gnomAD-4.0.0 1.20033E-06
7862 68 N/T 149 rs794729629 0.2927 None gnomAD-2.1.1 4.03E-06
7862 68 N/T 149 rs794729629 0.2927 None gnomAD-4.0.0 1.5918E-06
7863 69 S/P 151 rs1553906488 0.2307 None gnomAD-4.0.0 4.10585E-06
7865 71 K/R 153 rs746952741 0.4029 None gnomAD-2.1.1 4.03E-06
7865 71 K/R 153 rs746952741 0.4029 None gnomAD-4.0.0 2.7373E-06
7866 72 Y/C 154 None 0.1499 None gnomAD-4.0.0 1.36864E-06
7866 72 Y/F 154 rs368684128 0.1499 None gnomAD-2.1.1 8.06E-06
7866 72 Y/F 154 rs368684128 0.1499 None gnomAD-3.1.2 6.57E-06
7866 72 Y/F 154 rs368684128 0.1499 None gnomAD-4.0.0 9.91682E-06
7867 73 I/M 155 rs1334032406 0.1514 None gnomAD-2.1.1 4.03E-06
7867 73 I/M 155 rs1334032406 0.1514 None gnomAD-4.0.0 2.73738E-06
7867 73 I/T 155 rs376689567 0.1514 None gnomAD-2.1.1 7.15E-06
7867 73 I/T 155 rs376689567 0.1514 None gnomAD-3.1.2 3.29E-05
7867 73 I/T 155 rs376689567 0.1514 None gnomAD-4.0.0 3.28688E-05
7867 73 I/V 155 rs1446627286 0.1514 None gnomAD-2.1.1 4.03E-06
7867 73 I/V 155 rs1446627286 0.1514 None gnomAD-4.0.0 2.05301E-06
7868 74 C/R 156 rs1158489320 0.0709 None gnomAD-3.1.2 1.31E-05
7868 74 C/R 156 rs1158489320 0.0709 None gnomAD-4.0.0 4.33878E-06
7870 76 I/N 158 None 0.0576 None gnomAD-4.0.0 2.40064E-06
7871 77 K/I 159 None 0.5197 None gnomAD-4.0.0 1.36896E-06
7872 78 N/H 161 None 0.1699 None gnomAD-4.0.0 1.59291E-06
7872 78 N/K 161 rs181206334 0.1699 None gnomAD-2.1.1 8.08E-06
7872 78 N/K 161 rs181206334 0.1699 None gnomAD-4.0.0 1.02683E-05
7872 78 N/S 161 rs746024262 0.1699 None gnomAD-2.1.1 8.08E-06
7872 78 N/S 161 rs746024262 0.1699 None gnomAD-4.0.0 1.36909E-06
7872 78 N/T 161 rs746024262 0.1699 None gnomAD-2.1.1 4.04E-06
7872 78 N/T 161 rs746024262 0.1699 None gnomAD-4.0.0 3.42274E-06
7873 79 D/G 162 None 1.0802 None gnomAD-4.0.0 1.59325E-06
7873 79 D/N 162 rs753929851 1.0802 None gnomAD-2.1.1 7.17E-06
7873 79 D/N 162 rs753929851 1.0802 None gnomAD-3.1.2 1.31E-05
7873 79 D/N 162 rs753929851 1.0802 None gnomAD-4.0.0 4.34016E-06
7874 80 A/V 163 None 0.7494 None gnomAD-4.0.0 3.18752E-06
7875 81 G/E 164 None 0.2707 None gnomAD-4.0.0 1.59444E-06
7876 82 M/I 165 None 0.4094 None gnomAD-4.0.0 3.19068E-06
7876 82 M/V 165 None 0.4094 None gnomAD-4.0.0 3.60097E-06
7879 85 C/F 169 None 0.0884 None gnomAD-4.0.0 1.59794E-06
7879 85 C/W 169 rs756600411 0.0884 None gnomAD-2.1.1 1.63E-05
7879 85 C/W 169 rs756600411 0.0884 None gnomAD-4.0.0 1.27795E-05
7879 85 C/Y 169 rs2078102033 0.0884 None gnomAD-4.0.0 1.59794E-06
7880 86 S/T 171 rs1158110251 0.3334 None gnomAD-2.1.1 4.07E-06
7880 86 S/T 171 rs1158110251 0.3334 None gnomAD-4.0.0 3.19568E-06
7881 87 A/V 172 None 0.1198 None gnomAD-4.0.0 1.59977E-06
7884 90 T/I 175 rs1180482059 0.4250 None gnomAD-2.1.1 4.13E-06
7884 90 T/I 175 rs1180482059 0.4250 None gnomAD-4.0.0 2.74767E-06
7885 91 V/A 178 rs2078098721 0.1564 None gnomAD-4.0.0 2.06364E-06
7885 91 V/L 178 rs1438134317 0.1564 None gnomAD-2.1.1 4.16E-06
7885 91 V/L 178 rs1438134317 0.1564 None gnomAD-4.0.0 3.22379E-06